Disease progression of alpha-mannosidosis and impact on patients and carers – a UK natural history survey
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Date
Authors
Adam, Jacqueline
Malone, Rachel
Lloyd, Sioned
Lee, Jennifer
Hendriksz, Christian J.
Ramaswami, Uma
Journal Title
Journal ISSN
Volume Title
Publisher
Elsevier
Abstract
INTRODUCTION: Alpha-mannosidosis is an ultra-rare lysosomal storage disorder resulting from the deficient activity
of lysosomal alpha-mannosidase. Alpha-mannosidosis presents as a highly heterogenous condition with large
variations in symptom severity and disease progression rates. Quantitative and qualitative data for alphamannosidosis patients and their caregivers provide important insights into their daily experiences.
METHODS: A survey of nine alpha-mannosidosis patients was carried out in the UK between August 2017 and
January 2018. Patient demographics, health-related quality of life (HRQoL), and qualitative data from patients
and carers relating to clinical characteristics and impact of the disease and treatment were analysed.
RESULTS: At the time of survey completion, patient age ranged from 7 to 37 years. Five patients were described as
‘walking unassisted’, one as ‘walking with assistance’, one as ‘wheelchair-dependent’, and two as ‘severely immobile’. In addition to best supportive care, three patients had received haematopoietic stem cell transplantation
(HSCT) and one had received velmanase alfa enzyme replacement therapy (ERT). Patient HRQoL results for the
EQ-5D-5 L questionnaire and the Health Utilities Index-3 showed that patients with more severe ambulatory
health states reported lower utility values than patients who were more mobile. Patients who received HSCT or
ERT experienced improved HRQoL. Carer HRQoL results for the Hospital Anxiety and Depression Scale and
Caregiver Strain Index demonstrated that carers experience high levels of stress and anxiety from their caregiving responsibilities.
CONCLUSIONS: This survey confirmed the heterogeneity of alpha-mannosidosis and the large impact of the disease
and treatment on patients, carers, and families. Early diagnosis and access to treatment offers the best chance of
slowing the disease progression and may provide some relief to patients and carers.
Description
Supplementary Material 1: EQ-5D-5L domains walking ability results
Supplementary Material 2: Patient questionnaires
Supplementary Material 2: Patient questionnaires
Keywords
Alpha-mannosidosis, Lysosomal storage disorder, Velmanase alfa, Quality of life, Haematopoietic stem cell transplantation (HSCT), Enzyme replacement therapy (ERT), Health-related quality of life (HRQoL)
Sustainable Development Goals
Citation
Adam, J., Malone, R., Lloyd, S. et al. 2019, 'Disease progression of alpha-mannosidosis and impact on patients and carers – a UK natural history survey', Molecular Genetics and Metabolism Reports, vol. 20, art. 100480, pp. 1-9.